Xeroderma pigmentosum group C
XPC

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Description from OMIM

Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993). For a general discussion of xeroderma pigmentosum, see XPA (278700).



Prevalence of clinical parameters (%)







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Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Cancer integumentary 84 % 21097776 2013-10-17
Sun sensitivity integumentary 30 % 21097776 2013-10-17



List of references:


Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.
Porcia T Bradford, Alisa M Goldstein, Deborah Tamura, Sikandar G Khan, Takahiro Ueda, Jennifer Boyle, Kyu-Seon Oh, Kyoko Imoto, Hiroki Inui, Shin-Ichi Moriwaki, Steffen Emmert, Kristen M Pike, Arati Raziuddin, Teri M Plona, John J DiGiovanna, Margaret A Tucker, Kenneth H Kraemer,

The frequency of cancer, neurologic degeneration and mortality in xeroderma pigmentosum (XP) patients with defective DNA repair was determined in a four decade natural history study.

Journal of medical genetics - Mar 2011